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排序方式: 共有125条查询结果,搜索用时 15 毫秒
41.
Lanzi G Longaretti F Romeo A Capovilla G Granocchio E Viri M Veggiotti P 《Journal of child neurology》2003,18(1):72-74
The purpose of this study was to evaluate prognostic factors in early-onset childhood epilepsy with occipital paroxysms. We studied retrospectively a population of 46 patients, which was divided into three groups according to seizure frequency group 1, patients experiencing a single seizure (3396); group 2, patients experiencing two to six seizures (48%); and group 3, patients experiencing more than six seizures (20%). The mean follow-up period was about 5 years in the three groups. At the end of the first 6 months of this retrospective follow-up, the average number of seizures was higher in group 3 (2.9 seizures) than in groups 2 and 1 (1.8 and 1 seizure, respectively). We suggest that low seizure frequency in the first 6 months of follow-up could have prognostic value. We propose that the introduction of anti-epilepsy drugs be delayed for 6 months following epilepsy onset and be subsequently limited to patients with frequent seizure recurrence. 相似文献
42.
Capovilla G Gambardella A Romeo A Beccaria F Montagnini A Labate A Viri M Sgrò V Veggiotti P 《Epilepsia》2001,42(12):1549-1552
PURPOSE: To delineate the electroclinical features of patients with partial seizures in adolescence with a benign outcome. METHODS: Patients were recruited in five different Italian epilepsy centers. Patients were selected among those with partial seizures between ages 11 and 17 years. We excluded benign childhood epilepsies, those with neurologic or mental deficits, and those with neuroradiologically documented lesions. We also excluded patients with less than 3 years' follow-up or who were still receiving antiepileptic therapy. RESULTS: There were 37 (22 male, 15 female) patients. Seizures started at the mean age of 14.5 years (range, 11-16.11). Two main electroclinical patterns emerged: 16 of 37 patients had somatomotor seizures frequently associated with focal theta discharges involving the centroparietal regions. Ten of 37 patients showed versive seizures and interictal spiking involving the posterior regions. A third group had clinical characteristics resembling the cases described by Loiseau. All had a favorable outcome. CONCLUSIONS: This relevant multicenter study further confirms the existence of benign partial epilepsies with onset during adolescence. 相似文献
43.
Constitutive expression of a complement-like protein in toll and JAK gain-of-function mutants of Drosophila 总被引:9,自引:0,他引:9
Lagueux M Perrodou E Levashina EA Capovilla M Hoffmann JA 《Proceedings of the National Academy of Sciences of the United States of America》2000,97(21):11427-11432
We show that Drosophila expresses four genes encoding proteins with significant similarities with the thiolester-containing proteins of the complement C3/alpha(2)-macroglobulin superfamily. The genes are transcribed at a low level during all stages of development, and their expression is markedly up-regulated after an immune challenge. For one of these genes, which is predominantly expressed in the larval fat body, we observe a constitutive expression in gain-of-function mutants of the Janus kinase (JAK) hop and a reduced inducibility in loss-of-function hop mutants. We also observe a constitutive expression in gain-of-function Toll mutants. We discuss the possible roles of these novel complement-like proteins in the Drosophila host defense. 相似文献
44.
Alberto Verrotti Sergio Agostinelli Giovanni Prezioso Giangennaro Coppola Giuseppe Capovilla Antonino Romeo Pasquale Striano Pasquale Parisi Salvatore Grosso Alberto Spalice Thomas Foiadelli Paolo Curatolo Francesco Chiarelli Salvatore Savasta 《Seizure》2013,22(5):356-359
PurposeCornelia de Lange (CdLS) syndrome is characterized by multiple congenital anomalies and mental retardation. Epilepsy is a clinical feature found in about 20% of cases, but there are no data about its electroclinical features and long-term outcome.Methodswe describe a clinical series of fourteen Caucasian CdLS paediatric patients who developed epilepsy, with special reference to the long term prognosis.ResultsEpilepsy manifested between age 0.6 and 16.3 years. The majority of patients (64.3%) presented with partial seizures and interictal EEGs mainly revealed focal epileptic paroxysms involving temporal and parietal areas. Thirteen of 14 children became seizure-free with treatment. Valproate monotherapy was used in eight patients (57.1%), controlling seizures in seven. Otherwise monotherapy with topiramate, levetiracetam, carbamazepine and oxcarbazepine appeared to be effective in controlling seizures in four cases. At the end of the follow-up (age range, 7.3–24.2 years; follow-up, 8.2 ± 3.9 years), thirteen patients were seizure free (three still in therapy), while in one patient seizures were not controlled.ConclusionsPartial epilepsy is the most common type of epilepsy in CdLS patients. In the majority of cases the prognosis of this epilepsy is favourable and therapy can be withdrawn after few years of complete seizure control. 相似文献
45.
Sergio Agostinelli Patrizia Accorsi Francesca Beccaria Vincenzo Belcastro Maria Paola Canevini Giuseppe Capovilla Silvia Cappanera Bernardo Dalla Bernardina Francesca Darra Luigi Del Gaudio Maurizio Elia Raffaele Falsaperla Lucio Giordano Giuseppe Gobbi Carlo Minetti Francesco Nicita Pasquale Parisi Piero Pavone Marianna Pezzella Michela Sesta Alberto Spalice Salvatore Striano Elisabetta Tozzi Monica Traverso Stella Vari Aglaia Vignoli Nelia Zamponi Federico Zara Pasquale Striano Alberto Verrotti 《Epilepsia》2013,54(10):1761-1770
46.
Epileptic encephalopathy with continuous spikes and waves during slow sleep (EECSWSS) is an age-related childhood condition characterized by epilepsy, cognitive or behavioral impairment, and electroencephalographic abnormality of continuous spike–wave discharges during slow sleep. Continuous spikes and waves during slow sleep (or electrical status epilepticus during sleep) is an electrographic pattern characterized by nearly continuous spike–wave discharges during non-REM sleep, with a frequency of 1.5–3 Hz and usually diffuse and bilateral in distribution. Most authors consider EECSWSS as wide spectrum of epileptic conditions of different origin associated with heterogeneous clinical manifestations and neuropsychological impairment of different severity in close temporal concordance with the appearance of the electroencephalographic pattern of electrical status epilepticus during sleep. The long-term prognosis of this condition is overall poor owing to the persistence of neuropsychological impairment. Therefore, early recognition and effective therapy are necessary to improve long-term prognosis. 相似文献
47.
Peggy Dartigues Sylvie Isaac Laurent Villeneuve Olivier Glehen Mathieu Capovilla Anne Chevallier Sabrina Croce Rachid Kaci Gerlinde Lang-Averous Marie-Hélène Laverriere Agnès Leroux-Broussier Éliane Mery Flora Poizat Séverine Valmary-Degano Véronique Verriele-Beurrier François- Noël Gilly Frédéric Bibeau 《Annales de pathologie》2014
Pseudomyxoma peritonei is a clinical entity characterized by a gelatinous ascite associated with mucinous tumor deposits spreading on peritoneal surface and potentially invading abdominal organs. It is considered as a tumor process linked, in most of cases, to a mucinous appendiceal neoplasm. Pseudomyxoma peritonei may benefit from a therapeutic strategy combining cytoreductive surgery and intra-peritoneal chemotherapy, which has led to a major prognosis improvement. Different classifications are available and the last one corresponds to the WHO 2010 version, which individualizes pseudomyxoma peritonei in two classes: low grade and high grade mucinous carcinoma. The very low frequency of this entity and its specific therapeutic strategy need specific health care centres, as well as physicians and pathologists collaborating through dedicated networks. The aim of this article is to summarize the pathology, causes, mechanisms and therapeutic approaches of pseudomyxoma peritonei, as well as their interfaces with dedicated networks. 相似文献
48.
Annesi F Gambardella A Michelucci R Bianchi A Marini C Canevini MP Capovilla G Elia M Buti D Chifari R Striano P Rocca FE Castellotti B Cali F Labate A Lepiane E Besana D Sofia V Tabiadon G Tortorella G Vigliano P Vignoli A Beccaria F Annesi G Striano S Aguglia U Guerrini R Quattrone A 《Epilepsia》2007,48(9):1686-1690
Summary: Objectives: Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene.
Materials and Methods: Twenty-seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each exon of the EFHC1 gene was amplified and sequenced using intronic primers.
Results: Two heterozygous mutations were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease. In a fourth family, the variant 545G→A (resulting in the amino acid substitution R182 H) cosegregated with JME.
Conclusions: The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME. 相似文献
Materials and Methods: Twenty-seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each exon of the EFHC1 gene was amplified and sequenced using intronic primers.
Results: Two heterozygous mutations were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease. In a fourth family, the variant 545G→A (resulting in the amino acid substitution R182 H) cosegregated with JME.
Conclusions: The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME. 相似文献
49.
50.
Miguel Hernán Vicco Luz Rodeles Gabriela Soledad Capovilla Melina Perrig Ana Gabriela Herrera Choque Iván Marcipar Oscar Bottasso Celeste Rodriguez Washington Cuña 《Maternal and child health journal》2016,20(10):2057-2064
Objective The aim of the present research was to evaluate the correlation of vertically transmitted IgG antibodies induced by T. cruzi and newborn early outcome assessment, mainly birth weight and gestational age. Methods We performed a cross-sectional study with 183 pregnant women (64 with asymptomatic Chagas disease) and their newborns. Both were subjected to complete clinical examination. Peripheral parasitemia was assessed in mother and neonates by parasite detection through microscopic examination of the buffycoat from mother’s peripheral and cord blood. Antibodies induced by T. cruzi, such as anti-FRA, anti-B13, anti-p2β and anti-T. cruzi were assessed by immunoassay. Birth weight, general condition evaluation by APGAR Score and gestational age by Capurro Score, were determined in newborns. Results The rate of stillbirth background and pregnancy-induced hypertension were higher in patients with Chagas disease (p = 0.01 and p = 0.02, respectively). Parasitemia was detectable in 17 mothers and 4 newborns. The newborns of mothers with detectable parasitemia presented decreased gestational age (p = 0.006) and body weight (p = 0.04). Mostly all the mothers with Chagas disease and all their newborns have positive values of antibodies induced by T. cruzi; however, only anti-p2β showed to be related to the presence of complication during pregnancy (OR 2.35, p = 0.036), and to low birth weight (OR 1.55, p = 0.02). Conclusions Low birth weight and decreased postnatal estimation of maturity were related to detectable parasitemia in the mother. Also, vertical transmission of T. cruzi-induced autoantibodies might have clinical implication in newborns given the negative association between anti-p2β values and weight. 相似文献